Prenatal diagnosis of perplexing cases of lipidoses.

التفاصيل البيبلوغرافية
العنوان:	Prenatal diagnosis of perplexing cases of lipidoses.
المؤلفون:	Aboul Nasr AL; Gynecology and Obstetrics Department, Faculty ofMedicine, Cairo University, Cairo, Egypt., Fateen EM
المصدر:	Bratislavske lekarske listy [Bratisl Lek Listy] 2008; Vol. 109 (11), pp. 493-6.
نوع المنشور:	Case Reports; Journal Article
اللغة:	English
بيانات الدورية:	Publisher: AEP Press Country of Publication: Slovakia NLM ID: 0065324 Publication Model: Print Cited Medium: Print ISSN: 0006-9248 (Print) Linking ISSN: 00069248 NLM ISO Abbreviation: Bratisl Lek Listy Subsets: MEDLINE
أسماء مطبوعة:	Publication: <2001->: Bratislava, Slovakia : AEP Press Original Publication: Bratislava : SAP-Slovak Academic Press s.r.o.
مواضيع طبية MeSH:	Prenatal Diagnosis, Sphingolipidoses/diagnosis, Adult ; Chorionic Villi Sampling ; Clinical Enzyme Tests ; Female ; Genetic Counseling ; Humans ; Pedigree ; Pregnancy ; Sphingolipidoses/genetics
مستخلص:	Objective: To present and discuss the technical, ethical and counseling difficulties that were encountered in the prenatal diagnosis of some perplexing cases of lipidoses. Patients: Four pregnant women were referred to us for prenatal diagnosis with the diagnosis of lipidosis in an affected sibling. Discussion: (1) It is recommended to do the enzyme assays as the first choice in all cases suspected clinically to have lipidoses in order to establish the diagnosis instead of doing invasive procedures as liver and bone marrow biopsies. (2) Activity of more than one enzyme should be assayed to confirm specific deficiency against reference values. (3) Suspected prenatal diagnosis and indefinite diagnosis should only be considered after detailed and non-directive counseling (Tab. 1, Fig. 4, Ref. 5).
تواريخ الأحداث:	Date Created: 20090212 Date Completed: 20090305 Latest Revision: 20161026
رمز التحديث:	20240628
PMID:	19205558
قاعدة البيانات:	MEDLINE

الوصف
تدمد:	0006-9248